ClinVar Miner

List of variants in gene MYH11 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.135C>T (p.Phe45=) rs28570191 0.04299
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_002474.3(MYH11):c.530+20C>T rs780914854

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